Canonical Allele Identifier: CA2617923607

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563003-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563004_21563005del , CM000674.2:g.21563004_21563005del	GRCh38
NC_000012.11:g.21715938_21715939del , CM000674.1:g.21715938_21715939del	GRCh37
NC_000012.10:g.21607205_21607206del	NCBI36
NG_016167.1:g.46843_46844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.975_976del MANE Select	ENSP00000261195.2:p.Leu326PhefsTer7
ENST00000647960.1:c.*977_*978del	ENSP00000497202.1:n.*977_*978del
ENST00000648372.1:n.902_903del
ENST00000261195.2:c.975_976del	ENSP00000261195.2:p.Leu326PhefsTer7
NM_021957.3:c.975_976del	NP_068776.2:p.Leu326PhefsTer7
XM_005253352.1:c.975_976del	XP_005253409.1:p.Leu326PhefsTer7
XM_005253354.2:c.756_757del	XP_005253411.1:p.Leu253PhefsTer7
XM_006719062.2:c.975_976del	XP_006719125.1:p.Leu326PhefsTer7
XM_006719063.2:c.744_745del	XP_006719126.1:p.Leu249PhefsTer7
NM_021957.4:c.975_976del MANE Select	NP_068776.2:p.Leu326PhefsTer7
XM_006719063.3:c.744_745del	XP_006719126.1:p.Leu249PhefsTer7
XM_017019245.2:c.975_976del	XP_016874734.1:p.Leu326PhefsTer7
XM_024448960.1:c.975_976del	XP_024304728.1:p.Leu326PhefsTer7